Varaico: Literature-Extracted Genetic Variants

DSP

719 papers

RefSeq Summary

This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomy...

Pfam Domains

Spectrin_3aa 379–446UCSCSpectrin-like repeat

SH3_10aa 447–513UCSCSH3 domain

Spectrin_2aa 548–625UCSCSpectrin like domain

SR_desmoplakin_3aa 846–1012UCSCDesmoplakin-like, Spectrin domain

Plectinaa 2048–2086UCSCPlectin repeat

Plectinaa 2124–2162UCSCPlectin repeat

Gene Aliases

HGNC Name

desmoplakin

HGNC Alias Symbols

KPPS2; PPKS2; DPI; DPII

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004415.4

p.R1184W

c.3550C>T

Surrounding Variants

1 paper

NM_004415.4

p.R1184Q

c.3551G>A

1 paper

NM_004415.4

p.K1185R

c.3554A>G

2 papers

NM_004415.4

p.Y1188H

c.3562T>C

5 papers

NM_004415.4

p.Y1188*

c.3564T>A

4 papers

NM_004415.4

p.Y1188*

c.3564T>G

1 paper

NM_004415.4

p.L1178R

c.3533T>G

1 paper

NM_004415.4

p.L1177Q

c.3530T>A

1 paper

NM_004415.4

p.V1176fs

c.3526_3527fs

1 paper

NM_004415.4

p.V1176fs

c.3526_3527fs

1 paper

NM_004415.4

p.V1176delFs

c.3526delG

1 paper

NM_004415.4

p.K1194_N1197delFs

c.3582_3591del10

2 papers

NM_004415.4

p.I1171T

c.3512T>C